Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference

VarSome: the human genomic variant search engine

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Cold Urticaria, Immunodeficiency, and Autoimmunity Related to <i>PLCG2</i> Deletions

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A Hypermorphic Missense Mutation in PLCG2 , Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency

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Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

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Autoimmunity and Inflammation Due to a Gain-of-Function Mutation in Phospholipase Cγ2 that Specifically Increases External Ca2+ Entry

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Serum immunoglobulin (IgG, IgM, IgA) and IgG subclass concentrations in healthy children: a study using nephelometric technique

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Targeted multigene deep sequencing of Bruton tyrosine kinase inhibitor–resistant chronic lymphocytic leukemia with disease progression and Richter transformation

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Brief Report: Connecting Two Pathways Through Ca²⁺ Signaling: NLRP3 Inflammasome Activation Induced by a Hypermorphic <i>PLCG2</i> Mutation

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Peripheral blood lymphocyte subsets in healthy Turkish children

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Familial atypical cold urticaria: Description of a new hereditary disease

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Immunoglobulin treatment in primary antibody deficiency

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PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes

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Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

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AreBTKandPLCG2mutations necessary and sufficient for ibrutinib resistance in chronic lymphocytic leukemia?

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Bronchiectasis in common variable immunodeficiency: A systematic review and meta‐analysis

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A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases

Novice, T., Kariminia, A., Del Bel, K. L., Lu, H., Sharma, M., Lim, C. J., Read, J., Lugt, M. V., Hannibal, M. C., O’Dwyer, D., et al. (2020) · Journal of Clinical Immunology · doi:10.1007/s10875-019-00731-3 · Cited by 44 · see citing works

Identification of Novel Genetic Variants in CVID Patients With Autoimmunity, Autoinflammation, or Malignancy

Christiansen, M., Offersen, R., Jensen, J. M. B., Petersen, M. S., Larsen, C. S., & Mogensen, T. H. (2020) · Frontiers in Immunology · doi:10.3389/fimmu.2019.03022 · Cited by 44 · see citing works

Using genes to triangulate the pathophysiology of granulomatous autoinflammatory disease: NOD2, PLCG2 and LACC1

Szymanski, A. M., & Ombrello, M. J. (2018) · International Immunology · doi:10.1093/intimm/dxy021 · Cited by 36 · see citing works

Prophylactic Antibiotics Versus Immunoglobulin Replacement in Specific Antibody Deficiency

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Acquired Cold Urticaria vs. Autoinflammatory Diseases, Genetic and Clinical Profile and Differential Diagnosis: Study of a Cohort of Patients in a Tertiary Reference Centre

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Alteraciones inmunológicas en la inmunodeficiencia común variable

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Variabler Immundefekt

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Cognitively healthy centenarians are genetically protected against Alzheimer's disease

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Molecular biology of autoinflammatory diseases

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Heterozygous expression of the Alzheimer’s disease-protective PLCγ2 P522R variant enhances Aβ clearance while preserving synapses

Solomon, S., Sampathkumar, N. K., Carre, I., Mondal, M., Chennell, G., Vernon, A. C., Ruepp, M.-D., & Mitchell, J. C. (2022) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-022-04473-1 · Cited by 23 · see citing works

Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review

Welzel, T., Oefelein, L., Holzer, U., Müller, A. J., Menden, B., Haack, T. B., Groβ, M., & Kuemmerle-Deschner, J. B. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11154369 · Cited by 13 · see citing works

Interstitial Lung Disease in Immunocompromised Children

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Cognitively Healthy Centenarians are genetically protected against Alzheimer’s disease specifically in immune and endo-lysosomal systemsPreprint

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PLCG2 across human disease: genetic variants, signaling mechanisms, and clinical implications

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Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience

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In Silico Investigation of Some Compounds from the N-Butanol Extract of Centaurea tougourensis Boiss. & Reut.

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Spectrum of clinical phenotypes of PLCG2 gene variants: Just PLAID

Chinen, J. (2024) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2024.02.007 · Cited by 3 · see citing works

Behçet’s spectrum disorders: genetic and immunological insights into an emerging disease concept

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A case report of autoinflammation and PLCy2-associated antibody deficiency and immune dysregulation

Leonteva, M. E., Bogdanova, D. V., Moiseeva, A. A., Бурлаков, В. И., Нестеренко, З. А., Merkushov, A. Y., Kan, N. Y., Khoreva, А. L., Rodina, Y. A., Shvets, O. A., et al. (2022) · Pediatric Hematology/Oncology and Immunopathology · doi:10.24287/1726-1708-2022-21-4-163-168 · Cited by 1 · see citing works

Heterozygous expression of the Alzheimer’s disease protective PLCγ2 P522R variant enhances Aβ clearance while preserving synapses.Preprint

Solomon, S., Sampathkumar, N. K., Carre, I., Mondal, M., Chennell, G., Vernon, A. C., Ruepp, M., & Mitchell, J. C. (2022) · Research Square · doi:10.21203/rs.3.rs-1420006/v2 · Cited by 1 · see citing works

Successful Therapy in Cases Series of Systemic Autoinflammatory Disease and Literature ReviewPreprint

Hu, S., Yu, M., Huang, X., Xing, R. S., & Yu, Y. (2021) · Research Square · doi:10.21203/rs.3.rs-1156651/v1

Heterozygous expression of the Alzheimer’s disease protective PLCγ2 P522R variant enhances Aβ clearance while preserving synapses.Preprint

Solomon, S., Sampathkumar, N. K., Carre, I., Mondal, M., Chennell, G., Vernon, A. C., Ruepp, M., & Mitchell, J. C. (2022) · Research Square · doi:10.21203/rs.3.rs-1420006/v1

Current Genetic Defects in Common Variable Immune Deficiency Patients on the Geography Between Europe and AsiaPreprint

Aygun, A., Topyıldız, E., Geyik, M., Karaca, N. E., Durmaz, A., Aksu, G., Aykut, A., & Kütükçüler, N. (2023) · Research Square · doi:10.21203/rs.3.rs-3093761/v1

Heat shock protein 90, death-associated protein kinase 1 and other cold-induced proteins: Who’s to blame for cold-induced inflammasome activation in familial cold autoinflammatory syndromes?

Silva, R. C. M. C. (2023) · Medical Hypotheses · doi:10.1016/j.mehy.2023.111172

Enfermedad inflamatoria intestinal de inicio muy temprano con mutación en el gen fosfolipasa gama 2 (PLCG2) y defectos de la inmunidad

RISTORI, A. G. R. , Delgado, C. T. C., Mendez, F. G., Reyes, S. O. L., & Yamazaki‐Nakashimada, M. A. (2023) · Acta Pediátrica de México · doi:10.18233/apm.v44i6.2845

Autoinflammatory diseases. Part 1: concept, classification, immunobiology, diagnosis

Shvaratska, O., Kalichevska, M. V., Klymenko, O. V., Taran, O. M., Klimova, O. V., Vilenskyi, Y. V., Plekhanova, T. M., & Мавропуло, Т. К. (2024) · CHILD`S HEALTH · doi:10.22141/2224-0551.19.7.2024.1760

Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review

Welzel, T., Oefelein, L., Holzer, U., Müller, A. J., Menden, B., Haack, T. B., Groβ, M., & Kuemmerle-Deschner, J. B. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11154369 · Cited by 13 · see citing works

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases

Novice, T., Kariminia, A., Del Bel, K. L., Lu, H., Sharma, M., Lim, C. J., Read, J., Lugt, M. V., Hannibal, M. C., O’Dwyer, D., et al. (2020) · Journal of Clinical Immunology · doi:10.1007/s10875-019-00731-3 · Cited by 44 · see citing works

Case Report: de novo in-frame deletion in PLCG2 gene: a case report of B-cell lymphopenia, pulmonary bullae, and cutis laxa

Wu, X., Zhang, J., & Shen, M. (2025) · Frontiers in Immunology · doi:10.3389/fimmu.2025.1556372 · Cited by 1 · see citing works

Clinical and immunological features of an APLAID patient caused by a novel mutation in PLCG2

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LB1538 A novel hypermorphic missense mutation in PLCG2 gene, resulting in the autosomal dominant immunodeficiency “APLAID syndrome” with recurrent polymorphic rash

Scharnitz, T., Novice, T. S., Rizzo, J. F., & Zacur, J. L. (2018) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2018.06.072